gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.95656071A>T , CM000676.2:g.95656071A>T | GRCh38 |
| NC_000014.8:g.96122408A>T , CM000676.1:g.96122408A>T | GRCh37 |
| NC_000014.7:g.95192161A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_028288.1:n.1280+1445A>T | ||
| NR_028288.2:n.361+1445A>T | ||
| NR_152604.1:n.361+1445A>T |